Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 7:107902340 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930189

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6379

This variant has 16 HGVS names - click the plus to show

7:g.107902340A>G
ENST00000450038.5:c.214A>G
ENSP00000409590.1:p.Lys72Glu
ENST00000205402.9:c.214A>G
ENSP00000205402.3:p.Lys72Glu
ENST00000417551.5:c.214A>G
ENSP00000390667.1:p.Lys72Glu
ENST00000437604.6:c.214A>G
ENSP00000387542.2:p.Lys72Glu
ENST00000451081.5:c.214A>G
ENSP00000388077.1:p.Lys72Glu
ENST00000415325.5:c.119-1138A>G
ENST00000460577.5:n.248A>G
ENST00000494441.1:n.359A>G
ENST00000440410.5:c.198+523A>G
ENST00000453354.5:n.279A>G

About this variant

This variant overlaps 12 transcripts and is associated with 2 phenotypes.

Variant displays